The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hünermann syndrome.

The chondrodysplasia punctatas (CDP) are a group of genetic diseases presenting with the common hallmark of epiphyseal calcific deposits. A 21.3 week female fetus with a clinical and molecular diagnosis of X-linked dominant CDP (CDPX2 or Conradi-Hunermann syndrome) has been investigated with particular attention to the morphology of the calcific deposits (stipplings).

Prenatal diagnosis and management of mild fetal pyelectasis: implications for neonatal outcome and follow-up.

Objectives: To describe the natural history of pyelectasis from its detection in the second trimester to delivery, its capability to predict renal pathology and whether prenatal development of pelvic dilatation is correlated to its postnatal evolution.

Study Design: A retrospective analysis involving 375 fetuses with a complete urological follow-up. Prenatal ultrasound was correlated with the results of postnatal investigation and frequency of postnatal surgery was established.